Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia.

Journal article

The tumor suppressor p53 is a master sensor of stress. Two human-specific polymorphisms, p53 codon 72 and MDM2 SNP309, influence the activities of p53. There is a tight association between cold winter temperature and p53 Arg72 and between low UV intensity and MDM2 SNP309 G/G in a cohort of 4029 individuals across Eastern Asia that suggests causative selection. Moreover, the two polymorphisms are not coselected. Haplotype-based selection analysis further suggests that this is a striking example of two functional polymorphisms being strongly selected for in human populations in response to environmental stresses.

Authors: Shi, H; Tan, S; Zhong, H; Hu, W; Levine, A

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 84
• Issue: 4
• Pages: 534-541
• Publication date: 2009-04-01
• DOI: 10.1016/j.ajhg.2009.03.009
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Gene Frequency; Selection, Genetic; Asian Continental Ancestry Group; Haplotypes; Base Sequence; Temperature; Cohort Studies; Proto-Oncogene Proteins c-mdm2; Ethnic Groups; Alleles; Seasons; Models, Genetic; Transcriptional Activation; Genes, p53; Humans; Leukemia Inhibitory Factor; Stress, Physiological; Far East; Polymorphism, Single Nucleotide; DNA Primers; Cold Climate; Ultraviolet Rays